A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461383



Internal ID15521448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43198448..43230037hg38UCSC Ensembl
Innerchr1:43664119..43695708hg19UCSC Ensembl
Innerchr1:43436706..43468295hg18UCSC Ensembl
Innerchr1:43333212..43364801hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3831590
hg1931590
hg1831590
hg1731590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537771
Samples1780854205_A
Known GenesWDR65
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv461383
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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